Linked Data
ClinVar Variation Id:
725756
ClinVar RCV Id:
RCV000899868
dbSNP Id:
rs377244118
gnomAD v4:
12-102866649-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102866649A>G , CM000674.2:g.102866649A>G | GRCh38 |
| NC_000012.11:g.103260427A>G , CM000674.1:g.103260427A>G | GRCh37 |
| NC_000012.10:g.101784557A>G | NCBI36 |
| NG_008690.1:g.55954T>C | |
| NG_008690.2:g.96762T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.456T>C MANE Select | ENSP00000448059.1:p.Pro152= | |
| ENST00000307000.7:c.441T>C | ENSP00000303500.2:p.Pro147= | |
| ENST00000549111.5:n.552T>C | ||
| ENST00000551988.5:n.530+10813T>C | ||
| ENST00000553106.5:c.456T>C | ENSP00000448059.1:p.Pro152= | |
| NM_000277.1:c.456T>C | NP_000268.1:p.Pro152= | |
| XM_011538422.1:c.456T>C | XP_011536724.1:p.Pro152= | |
| NM_000277.2:c.456T>C | NP_000268.1:p.Pro152= | |
| NM_001354304.1:c.456T>C | NP_001341233.1:p.Pro152= | |
| XM_017019370.2:c.456T>C | XP_016874859.1:p.Pro152= | |
| NM_000277.3:c.456T>C MANE Select | NP_000268.1:p.Pro152= | |
| NM_001354304.2:c.456T>C | NP_001341233.1:p.Pro152= |